Incidental Mutation 'R5566:Myo7a'
| ID |
436819 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Myo7a
|
| Ensembl Gene |
ENSMUSG00000030761 |
| Gene Name |
myosin VIIA |
| Synonyms |
nmf371, USH1B, polka, Hdb, Myo7 |
| MMRRC Submission |
043123-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5566 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
97700267-97768731 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 97714023 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 1616
(E1616G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102744
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084979]
[ENSMUST00000107122]
[ENSMUST00000107127]
[ENSMUST00000107128]
[ENSMUST00000156992]
[ENSMUST00000205746]
|
| AlphaFold |
P97479 |
| PDB Structure |
Structure of myosin VIIa MyTH4-FERM-SH3 in complex with the CEN1 of Sans [X-RAY DIFFRACTION]
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000084979
AA Change: E1605G
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000082046
Gene: ENSMUSG00000030761
AA Change: E1605G
| Domain | Start | End | E-Value | Type |
|---|
|
MYSc
|
48 |
731 |
N/A |
SMART |
|
IQ
|
732 |
754 |
2.99e0 |
SMART |
|
IQ
|
755 |
777 |
8.77e-7 |
SMART |
|
IQ
|
801 |
823 |
8e0 |
SMART |
|
IQ
|
824 |
846 |
8.7e0 |
SMART |
|
low complexity region
|
854 |
889 |
N/A |
INTRINSIC |
|
low complexity region
|
893 |
916 |
N/A |
INTRINSIC |
|
low complexity region
|
972 |
985 |
N/A |
INTRINSIC |
|
MyTH4
|
1006 |
1242 |
1.4e-71 |
SMART |
|
B41
|
1243 |
1458 |
8.82e-42 |
SMART |
|
SH3
|
1557 |
1622 |
4.93e-7 |
SMART |
|
MyTH4
|
1698 |
1847 |
3.95e-57 |
SMART |
|
B41
|
1849 |
2066 |
8.27e-56 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107122
AA Change: E1611G
PolyPhen 2
Score 0.364 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000102739
Gene: ENSMUSG00000030761
AA Change: E1611G
| Domain | Start | End | E-Value | Type |
|---|
|
MYSc
|
48 |
737 |
N/A |
SMART |
|
IQ
|
738 |
760 |
2.99e0 |
SMART |
|
IQ
|
761 |
783 |
8.77e-7 |
SMART |
|
IQ
|
807 |
829 |
8e0 |
SMART |
|
IQ
|
830 |
852 |
8.7e0 |
SMART |
|
low complexity region
|
860 |
895 |
N/A |
INTRINSIC |
|
low complexity region
|
899 |
922 |
N/A |
INTRINSIC |
|
low complexity region
|
978 |
991 |
N/A |
INTRINSIC |
|
MyTH4
|
1012 |
1248 |
1.4e-71 |
SMART |
|
B41
|
1249 |
1464 |
8.82e-42 |
SMART |
|
SH3
|
1563 |
1628 |
4.93e-7 |
SMART |
|
MyTH4
|
1704 |
1853 |
3.95e-57 |
SMART |
|
B41
|
1855 |
2072 |
8.27e-56 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000107127
AA Change: E1616G
PolyPhen 2
Score 0.932 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000102744
Gene: ENSMUSG00000030761
AA Change: E1616G
| Domain | Start | End | E-Value | Type |
|---|
|
MYSc
|
59 |
742 |
N/A |
SMART |
|
IQ
|
743 |
765 |
2.99e0 |
SMART |
|
IQ
|
766 |
788 |
8.77e-7 |
SMART |
|
IQ
|
812 |
834 |
8e0 |
SMART |
|
IQ
|
835 |
857 |
8.7e0 |
SMART |
|
low complexity region
|
865 |
900 |
N/A |
INTRINSIC |
|
low complexity region
|
904 |
927 |
N/A |
INTRINSIC |
|
low complexity region
|
983 |
996 |
N/A |
INTRINSIC |
|
MyTH4
|
1017 |
1253 |
1.4e-71 |
SMART |
|
B41
|
1254 |
1469 |
8.82e-42 |
SMART |
|
SH3
|
1568 |
1633 |
4.93e-7 |
SMART |
|
MyTH4
|
1709 |
1858 |
3.95e-57 |
SMART |
|
B41
|
1860 |
2077 |
8.27e-56 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000107128
AA Change: E1654G
PolyPhen 2
Score 0.714 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000102745
Gene: ENSMUSG00000030761
AA Change: E1654G
| Domain | Start | End | E-Value | Type |
|---|
|
MYSc
|
59 |
742 |
N/A |
SMART |
|
IQ
|
743 |
765 |
2.99e0 |
SMART |
|
IQ
|
766 |
788 |
8.77e-7 |
SMART |
|
IQ
|
812 |
834 |
8e0 |
SMART |
|
IQ
|
835 |
857 |
8.7e0 |
SMART |
|
low complexity region
|
865 |
900 |
N/A |
INTRINSIC |
|
low complexity region
|
904 |
927 |
N/A |
INTRINSIC |
|
low complexity region
|
983 |
996 |
N/A |
INTRINSIC |
|
MyTH4
|
1017 |
1253 |
1.4e-71 |
SMART |
|
B41
|
1254 |
1469 |
8.82e-42 |
SMART |
|
SH3
|
1606 |
1671 |
4.93e-7 |
SMART |
|
MyTH4
|
1747 |
1896 |
3.95e-57 |
SMART |
|
B41
|
1898 |
2115 |
8.27e-56 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124787
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000156992
AA Change: E177G
PolyPhen 2
Score 0.730 (Sensitivity: 0.86; Specificity: 0.92)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000205746
AA Change: E1605G
PolyPhen 2
Score 0.888 (Sensitivity: 0.82; Specificity: 0.94)
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.5%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the myosin gene family. Myosins are mechanochemical proteins characterized by the presence of a motor domain, an actin-binding domain, a neck domain that interacts with other proteins, and a tail domain that serves as an anchor. This gene encodes an unconventional myosin with a very short tail. Defects in this gene are associated with the mouse shaker-1 phenotype and the human Usher syndrome 1B which are characterized by deafness, reduced vestibular function, and (in human) retinal degeneration. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2008]
PHENOTYPE: A number of spontaneous and ENU-induced mutations cause head-shaking, circling and deafness, often associated with cochlear hair cell degeneration and stereocilia anomalies. Defects in retinal pigment epithelial cells, male infertility, and light-inducedphotoreceptor damage have also been observed. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 97 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
T |
A |
11: 9,244,615 (GRCm39) |
Y2159* |
probably null |
Het |
| Abca3 |
A |
G |
17: 24,602,901 (GRCm39) |
T499A |
probably benign |
Het |
| Abcb5 |
T |
A |
12: 118,899,702 (GRCm39) |
T322S |
probably damaging |
Het |
| Adamts4 |
T |
A |
1: 171,078,419 (GRCm39) |
M1K |
probably null |
Het |
| Adamtsl4 |
C |
T |
3: 95,592,765 (GRCm39) |
|
probably null |
Het |
| Adh4 |
A |
T |
3: 138,129,950 (GRCm39) |
I259F |
probably damaging |
Het |
| Aff3 |
G |
A |
1: 38,220,505 (GRCm39) |
S1135F |
probably damaging |
Het |
| Arhgef16 |
T |
C |
4: 154,370,105 (GRCm39) |
D280G |
probably benign |
Het |
| Baiap3 |
T |
C |
17: 25,470,707 (GRCm39) |
E71G |
probably damaging |
Het |
| Calb2 |
A |
G |
8: 110,879,332 (GRCm39) |
I91T |
possibly damaging |
Het |
| Ccr5 |
A |
G |
9: 123,924,697 (GRCm39) |
N100S |
probably benign |
Het |
| Cep57 |
G |
T |
9: 13,732,871 (GRCm39) |
R25S |
probably damaging |
Het |
| Chadl |
A |
G |
15: 81,580,079 (GRCm39) |
L52P |
probably damaging |
Het |
| Clec12b |
T |
C |
6: 129,362,438 (GRCm39) |
T6A |
probably damaging |
Het |
| Cnga1 |
T |
A |
5: 72,775,593 (GRCm39) |
N43Y |
probably damaging |
Het |
| Col20a1 |
A |
T |
2: 180,628,316 (GRCm39) |
|
probably null |
Het |
| Csmd2 |
T |
C |
4: 128,356,682 (GRCm39) |
|
probably null |
Het |
| Ctps1 |
A |
T |
4: 120,411,300 (GRCm39) |
|
probably null |
Het |
| Cyp39a1 |
T |
A |
17: 43,996,099 (GRCm39) |
W224R |
possibly damaging |
Het |
| Defb29 |
A |
T |
2: 152,380,848 (GRCm39) |
Y54N |
probably benign |
Het |
| Dmbt1 |
A |
T |
7: 130,708,003 (GRCm39) |
D1241V |
probably damaging |
Het |
| Dnah1 |
A |
T |
14: 30,996,323 (GRCm39) |
I2671K |
probably benign |
Het |
| Dnah2 |
C |
A |
11: 69,407,395 (GRCm39) |
E158* |
probably null |
Het |
| Dynlt2b |
A |
G |
16: 32,238,718 (GRCm39) |
Y31C |
probably damaging |
Het |
| Edar |
A |
G |
10: 58,464,463 (GRCm39) |
S59P |
possibly damaging |
Het |
| Egr2 |
T |
A |
10: 67,376,596 (GRCm39) |
C339* |
probably null |
Het |
| Eif5b |
G |
A |
1: 38,084,765 (GRCm39) |
V871I |
possibly damaging |
Het |
| Eif5b |
G |
A |
1: 38,090,328 (GRCm39) |
G1169E |
probably damaging |
Het |
| Erap1 |
A |
G |
13: 74,810,531 (GRCm39) |
Y290C |
probably damaging |
Het |
| Fastkd5 |
T |
A |
2: 130,456,221 (GRCm39) |
T790S |
possibly damaging |
Het |
| Fkrp |
C |
T |
7: 16,544,849 (GRCm39) |
V338M |
probably damaging |
Het |
| Gabra6 |
T |
C |
11: 42,198,317 (GRCm39) |
T378A |
probably benign |
Het |
| Gm4924 |
C |
A |
10: 82,214,475 (GRCm39) |
Q17K |
possibly damaging |
Het |
| Gm9847 |
A |
G |
12: 14,545,000 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr108 |
A |
G |
17: 57,543,919 (GRCm39) |
F429S |
probably damaging |
Het |
| Gpr162 |
G |
A |
6: 124,837,901 (GRCm39) |
R250* |
probably null |
Het |
| Gtf2a1 |
A |
T |
12: 91,534,368 (GRCm39) |
D295E |
possibly damaging |
Het |
| Gtf2h3 |
C |
T |
5: 124,722,360 (GRCm39) |
T121I |
probably benign |
Het |
| Herc1 |
T |
A |
9: 66,372,819 (GRCm39) |
M3125K |
possibly damaging |
Het |
| Hoxb6 |
T |
A |
11: 96,191,580 (GRCm39) |
Y167* |
probably null |
Het |
| Hrob |
T |
A |
11: 102,146,659 (GRCm39) |
S312T |
probably damaging |
Het |
| Htt |
T |
C |
5: 35,006,419 (GRCm39) |
Y1443H |
probably damaging |
Het |
| Il21r |
A |
G |
7: 125,224,470 (GRCm39) |
D28G |
probably damaging |
Het |
| Impact |
T |
G |
18: 13,107,819 (GRCm39) |
V29G |
probably damaging |
Het |
| Itpr3 |
A |
G |
17: 27,334,926 (GRCm39) |
T2147A |
possibly damaging |
Het |
| Itsn2 |
T |
A |
12: 4,676,554 (GRCm39) |
L50Q |
probably damaging |
Het |
| Jade1 |
A |
G |
3: 41,559,338 (GRCm39) |
D473G |
possibly damaging |
Het |
| Kif26a |
T |
G |
12: 112,123,788 (GRCm39) |
L131R |
probably damaging |
Het |
| Kif2a |
A |
T |
13: 107,130,432 (GRCm39) |
M1K |
probably null |
Het |
| Lrsam1 |
C |
A |
2: 32,831,870 (GRCm39) |
Q368H |
probably damaging |
Het |
| Macf1 |
T |
C |
4: 123,328,957 (GRCm39) |
Q4592R |
probably damaging |
Het |
| Map3k5 |
T |
C |
10: 19,986,465 (GRCm39) |
V893A |
probably damaging |
Het |
| Med13l |
G |
T |
5: 118,866,730 (GRCm39) |
V595F |
possibly damaging |
Het |
| Mocs1 |
T |
A |
17: 49,761,211 (GRCm39) |
L435Q |
possibly damaging |
Het |
| Mtmr4 |
T |
C |
11: 87,495,356 (GRCm39) |
L471P |
probably damaging |
Het |
| Nacad |
T |
A |
11: 6,552,136 (GRCm39) |
S352C |
probably damaging |
Het |
| Nfat5 |
T |
A |
8: 108,095,767 (GRCm39) |
M817K |
possibly damaging |
Het |
| Ofcc1 |
C |
A |
13: 40,248,129 (GRCm39) |
L668F |
probably damaging |
Het |
| Or12j2 |
C |
A |
7: 139,915,980 (GRCm39) |
D68E |
probably damaging |
Het |
| Or7e178 |
T |
C |
9: 20,225,265 (GRCm39) |
Q309R |
probably benign |
Het |
| Or8j3c |
G |
A |
2: 86,253,721 (GRCm39) |
Q100* |
probably null |
Het |
| Plxnb2 |
T |
C |
15: 89,048,223 (GRCm39) |
T696A |
probably benign |
Het |
| Prkab2 |
T |
A |
3: 97,569,609 (GRCm39) |
F58L |
probably benign |
Het |
| Prpf4 |
G |
T |
4: 62,334,206 (GRCm39) |
L220F |
probably benign |
Het |
| Rad18 |
A |
T |
6: 112,658,307 (GRCm39) |
D199E |
probably benign |
Het |
| Raet1e |
T |
C |
10: 22,050,304 (GRCm39) |
L29P |
probably damaging |
Het |
| Ralgapb |
A |
C |
2: 158,336,630 (GRCm39) |
T1089P |
possibly damaging |
Het |
| Rest |
A |
G |
5: 77,430,173 (GRCm39) |
E864G |
probably benign |
Het |
| Rgsl1 |
T |
A |
1: 153,669,520 (GRCm39) |
I289F |
probably damaging |
Het |
| Rint1 |
T |
C |
5: 24,015,951 (GRCm39) |
Y406H |
probably damaging |
Het |
| Rmc1 |
T |
C |
18: 12,313,749 (GRCm39) |
I26T |
possibly damaging |
Het |
| Rpl31 |
C |
T |
1: 39,409,108 (GRCm39) |
R41C |
probably benign |
Het |
| Scn8a |
T |
C |
15: 100,872,415 (GRCm39) |
S485P |
probably damaging |
Het |
| Slamf1 |
T |
A |
1: 171,615,538 (GRCm39) |
V249E |
possibly damaging |
Het |
| Slc39a12 |
C |
T |
2: 14,412,414 (GRCm39) |
T362I |
possibly damaging |
Het |
| Sos1 |
C |
T |
17: 80,761,319 (GRCm39) |
V126I |
possibly damaging |
Het |
| Srcap |
T |
C |
7: 127,124,475 (GRCm39) |
F215S |
probably damaging |
Het |
| Supt4a |
T |
A |
11: 87,634,113 (GRCm39) |
S110T |
probably benign |
Het |
| Tbc1d30 |
T |
A |
10: 121,138,015 (GRCm39) |
T232S |
probably damaging |
Het |
| Tenm3 |
A |
G |
8: 48,732,041 (GRCm39) |
C1288R |
probably damaging |
Het |
| Tespa1 |
T |
A |
10: 130,191,356 (GRCm39) |
L100* |
probably null |
Het |
| Tgm1 |
C |
A |
14: 55,949,893 (GRCm39) |
R105L |
probably damaging |
Het |
| Tgoln1 |
G |
A |
6: 72,593,018 (GRCm39) |
T154I |
possibly damaging |
Het |
| Trp53i13 |
G |
A |
11: 77,399,552 (GRCm39) |
T259I |
probably damaging |
Het |
| Tubgcp4 |
T |
A |
2: 121,015,251 (GRCm39) |
F320I |
possibly damaging |
Het |
| Tut7 |
A |
T |
13: 59,936,443 (GRCm39) |
C817* |
probably null |
Het |
| Vmn1r21 |
A |
C |
6: 57,821,079 (GRCm39) |
Y122D |
probably benign |
Het |
| Vmn1r75 |
T |
A |
7: 11,614,407 (GRCm39) |
D46E |
probably damaging |
Het |
| Vmn2r120 |
A |
T |
17: 57,852,290 (GRCm39) |
L9M |
possibly damaging |
Het |
| Vmn2r59 |
A |
G |
7: 41,696,247 (GRCm39) |
I165T |
possibly damaging |
Het |
| Vmn2r76 |
A |
T |
7: 85,875,286 (GRCm39) |
Y564N |
probably damaging |
Het |
| Wee1 |
G |
T |
7: 109,725,257 (GRCm39) |
E300* |
probably null |
Het |
| Xdh |
T |
C |
17: 74,200,617 (GRCm39) |
D1168G |
probably damaging |
Het |
| Zfp54 |
A |
G |
17: 21,653,706 (GRCm39) |
T67A |
probably damaging |
Het |
| Zfp941 |
G |
T |
7: 140,392,679 (GRCm39) |
H227N |
probably benign |
Het |
| Zpr1 |
T |
A |
9: 46,192,373 (GRCm39) |
V399D |
possibly damaging |
Het |
| Zzz3 |
A |
G |
3: 152,161,461 (GRCm39) |
E285G |
probably damaging |
Het |
|
| Other mutations in Myo7a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00465:Myo7a
|
APN |
7 |
97,751,833 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00785:Myo7a
|
APN |
7 |
97,703,555 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL00840:Myo7a
|
APN |
7 |
97,700,866 (GRCm39) |
missense |
probably benign |
0.25 |
|
IGL01362:Myo7a
|
APN |
7 |
97,746,909 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01484:Myo7a
|
APN |
7 |
97,734,629 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01673:Myo7a
|
APN |
7 |
97,703,915 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01933:Myo7a
|
APN |
7 |
97,732,349 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01943:Myo7a
|
APN |
7 |
97,714,854 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
IGL02188:Myo7a
|
APN |
7 |
97,740,234 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL02304:Myo7a
|
APN |
7 |
97,726,943 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL02305:Myo7a
|
APN |
7 |
97,700,836 (GRCm39) |
makesense |
probably null |
|
|
IGL02331:Myo7a
|
APN |
7 |
97,702,389 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL02386:Myo7a
|
APN |
7 |
97,724,319 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02389:Myo7a
|
APN |
7 |
97,756,198 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02832:Myo7a
|
APN |
7 |
97,740,227 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02839:Myo7a
|
APN |
7 |
97,740,329 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03193:Myo7a
|
APN |
7 |
97,740,264 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03237:Myo7a
|
APN |
7 |
97,751,800 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03384:Myo7a
|
APN |
7 |
97,742,800 (GRCm39) |
missense |
probably damaging |
1.00 |
|
coward
|
UTSW |
7 |
97,734,673 (GRCm39) |
missense |
probably damaging |
1.00 |
|
H8786:Myo7a
|
UTSW |
7 |
97,744,985 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
IGL03046:Myo7a
|
UTSW |
7 |
97,728,534 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03134:Myo7a
|
UTSW |
7 |
97,705,974 (GRCm39) |
missense |
probably damaging |
0.96 |
|
PIT4696001:Myo7a
|
UTSW |
7 |
97,712,806 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0054:Myo7a
|
UTSW |
7 |
97,714,905 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0054:Myo7a
|
UTSW |
7 |
97,714,905 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0071:Myo7a
|
UTSW |
7 |
97,706,037 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0071:Myo7a
|
UTSW |
7 |
97,706,037 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0267:Myo7a
|
UTSW |
7 |
97,703,831 (GRCm39) |
missense |
probably benign |
0.08 |
|
R0408:Myo7a
|
UTSW |
7 |
97,705,988 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0411:Myo7a
|
UTSW |
7 |
97,721,144 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0540:Myo7a
|
UTSW |
7 |
97,721,153 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0607:Myo7a
|
UTSW |
7 |
97,721,153 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0629:Myo7a
|
UTSW |
7 |
97,734,673 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0632:Myo7a
|
UTSW |
7 |
97,761,357 (GRCm39) |
intron |
probably benign |
|
|
R0659:Myo7a
|
UTSW |
7 |
97,703,545 (GRCm39) |
splice site |
probably benign |
|
|
R0735:Myo7a
|
UTSW |
7 |
97,730,387 (GRCm39) |
splice site |
probably benign |
|
|
R0924:Myo7a
|
UTSW |
7 |
97,747,463 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0930:Myo7a
|
UTSW |
7 |
97,747,463 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1018:Myo7a
|
UTSW |
7 |
97,756,212 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1196:Myo7a
|
UTSW |
7 |
97,746,880 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R1331:Myo7a
|
UTSW |
7 |
97,756,215 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1487:Myo7a
|
UTSW |
7 |
97,703,017 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1676:Myo7a
|
UTSW |
7 |
97,748,679 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1695:Myo7a
|
UTSW |
7 |
97,741,703 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1770:Myo7a
|
UTSW |
7 |
97,761,813 (GRCm39) |
intron |
probably benign |
|
|
R1781:Myo7a
|
UTSW |
7 |
97,722,331 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1789:Myo7a
|
UTSW |
7 |
97,756,302 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1827:Myo7a
|
UTSW |
7 |
97,725,938 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1864:Myo7a
|
UTSW |
7 |
97,701,463 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1955:Myo7a
|
UTSW |
7 |
97,704,128 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2011:Myo7a
|
UTSW |
7 |
97,703,915 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R2229:Myo7a
|
UTSW |
7 |
97,704,117 (GRCm39) |
missense |
probably benign |
0.12 |
|
R2259:Myo7a
|
UTSW |
7 |
97,718,706 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2443:Myo7a
|
UTSW |
7 |
97,744,976 (GRCm39) |
missense |
probably benign |
0.07 |
|
R2898:Myo7a
|
UTSW |
7 |
97,746,413 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2898:Myo7a
|
UTSW |
7 |
97,703,631 (GRCm39) |
nonsense |
probably null |
|
|
R3158:Myo7a
|
UTSW |
7 |
97,701,499 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3408:Myo7a
|
UTSW |
7 |
97,730,294 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4222:Myo7a
|
UTSW |
7 |
97,722,436 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4255:Myo7a
|
UTSW |
7 |
97,721,171 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4374:Myo7a
|
UTSW |
7 |
97,751,881 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4429:Myo7a
|
UTSW |
7 |
97,702,395 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4445:Myo7a
|
UTSW |
7 |
97,715,611 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4579:Myo7a
|
UTSW |
7 |
97,722,400 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4659:Myo7a
|
UTSW |
7 |
97,734,673 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5073:Myo7a
|
UTSW |
7 |
97,722,425 (GRCm39) |
nonsense |
probably null |
|
|
R5138:Myo7a
|
UTSW |
7 |
97,732,806 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5580:Myo7a
|
UTSW |
7 |
97,722,367 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6079:Myo7a
|
UTSW |
7 |
97,714,997 (GRCm39) |
nonsense |
probably null |
|
|
R6138:Myo7a
|
UTSW |
7 |
97,714,997 (GRCm39) |
nonsense |
probably null |
|
|
R6451:Myo7a
|
UTSW |
7 |
97,722,374 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6452:Myo7a
|
UTSW |
7 |
97,722,374 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6453:Myo7a
|
UTSW |
7 |
97,722,374 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6454:Myo7a
|
UTSW |
7 |
97,722,374 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6455:Myo7a
|
UTSW |
7 |
97,722,374 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6465:Myo7a
|
UTSW |
7 |
97,711,887 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6653:Myo7a
|
UTSW |
7 |
97,703,710 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6709:Myo7a
|
UTSW |
7 |
97,703,906 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6917:Myo7a
|
UTSW |
7 |
97,744,970 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R7313:Myo7a
|
UTSW |
7 |
97,713,402 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7334:Myo7a
|
UTSW |
7 |
97,728,573 (GRCm39) |
missense |
probably benign |
|
|
R7356:Myo7a
|
UTSW |
7 |
97,751,890 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7393:Myo7a
|
UTSW |
7 |
97,712,906 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R7422:Myo7a
|
UTSW |
7 |
97,700,833 (GRCm39) |
splice site |
probably null |
|
|
R7472:Myo7a
|
UTSW |
7 |
97,714,000 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7483:Myo7a
|
UTSW |
7 |
97,712,881 (GRCm39) |
missense |
probably benign |
0.07 |
|
R7526:Myo7a
|
UTSW |
7 |
97,734,655 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R7948:Myo7a
|
UTSW |
7 |
97,724,236 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8069:Myo7a
|
UTSW |
7 |
97,732,833 (GRCm39) |
nonsense |
probably null |
|
|
R8115:Myo7a
|
UTSW |
7 |
97,715,653 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8150:Myo7a
|
UTSW |
7 |
97,712,846 (GRCm39) |
missense |
probably benign |
0.19 |
|
R8265:Myo7a
|
UTSW |
7 |
97,734,604 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8289:Myo7a
|
UTSW |
7 |
97,726,376 (GRCm39) |
missense |
probably benign |
|
|
R8298:Myo7a
|
UTSW |
7 |
97,747,541 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8518:Myo7a
|
UTSW |
7 |
97,740,270 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R8539:Myo7a
|
UTSW |
7 |
97,721,668 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8557:Myo7a
|
UTSW |
7 |
97,703,081 (GRCm39) |
missense |
probably benign |
0.08 |
|
R8685:Myo7a
|
UTSW |
7 |
97,746,334 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8902:Myo7a
|
UTSW |
7 |
97,741,820 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9034:Myo7a
|
UTSW |
7 |
97,728,465 (GRCm39) |
missense |
probably benign |
0.40 |
|
R9090:Myo7a
|
UTSW |
7 |
97,740,281 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9172:Myo7a
|
UTSW |
7 |
97,732,369 (GRCm39) |
missense |
probably benign |
|
|
R9271:Myo7a
|
UTSW |
7 |
97,740,281 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9334:Myo7a
|
UTSW |
7 |
97,716,369 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9356:Myo7a
|
UTSW |
7 |
97,725,873 (GRCm39) |
missense |
probably benign |
0.11 |
|
R9444:Myo7a
|
UTSW |
7 |
97,742,698 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R9459:Myo7a
|
UTSW |
7 |
97,722,380 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R9513:Myo7a
|
UTSW |
7 |
97,746,818 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9517:Myo7a
|
UTSW |
7 |
97,721,166 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9629:Myo7a
|
UTSW |
7 |
97,712,937 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9662:Myo7a
|
UTSW |
7 |
97,747,499 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R9709:Myo7a
|
UTSW |
7 |
97,743,536 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
RF005:Myo7a
|
UTSW |
7 |
97,742,824 (GRCm39) |
missense |
probably benign |
0.42 |
|
U15987:Myo7a
|
UTSW |
7 |
97,714,997 (GRCm39) |
nonsense |
probably null |
|
|
X0028:Myo7a
|
UTSW |
7 |
97,714,932 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0058:Myo7a
|
UTSW |
7 |
97,711,855 (GRCm39) |
missense |
probably benign |
0.02 |
|
Z1176:Myo7a
|
UTSW |
7 |
97,744,934 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Z1177:Myo7a
|
UTSW |
7 |
97,734,730 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
Z1177:Myo7a
|
UTSW |
7 |
97,701,433 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACCCCAGGGCTATCTATCATC -3'
(R):5'- CACCAGCCCAAATGAGGATG -3'
Sequencing Primer
(F):5'- ACCAATCATTAGTGTGTTGCAGTCC -3'
(R):5'- GCCCAAATGAGGATGTTCTAATCC -3'
|
| Posted On |
2016-10-24 |
Incidental Mutation